mainly consists of alpha-synuclein6, a protein that is encoded by theSNCAgene7.SNCAis a prominent potential genetic marker in PD due to its involvement in familial PD through point mutations or gene dosage effect8,9,10.SNCAis also implicated in a class of disorders called synucleinopathies, ...
In 2 smaller GWASs of 857 patients and 867 controls15 and of 604 patients and 619 controls,27 no markers met genome-wide significance after correction for multiple testing. However, in the former study,15SNCA was ranked ninth by strength of association among all gene regions (under an ...
The Thy1SNCA/15 mice overexpress 1–2 copies of the gene encoding human wild-type αSyn that is driven by the mouse thymus cell antigen 1 (Thy1) promoter leading to neuronal expression of αSyn in the brain and gut [7, 8, 60]. Thy1SNCA/15 mice were first described by Choi et al...
Among others interactions, it is suggested that even heterozygous substitution in the PRKN gene in the presence of the variants +2/+2 or +2/+3 of NACP-Rep1 in the SNCA promoter, may increase the risk of PD manifestation, which is probably due to ineffective elimination of over-expressed ...
The effects of the tau gene (MAPT) H1 haplotype, the H1 specific SNP rs242557, APOE and the α-synuclein gene (SNCA) 3′UTR SNP rs356165 on the burden of AD and LB pathology were assessed. Neurofibrillary tangles (NFTs) were counted in four brain regions, senile plaques in five and ...
Among others interactions, it is suggested that even heterozygous substitution in the PRKN gene in the presence of the variants +2/+2 or +2/+3 of NACP-Rep1 in the SNCA promoter, may increase the risk of PD manifestation, which is probably due to ineffective elimination of over-expressed ...
The Thy1SNCA/15 mice overexpress 1–2 copies of the gene encoding human wild-type αSyn that 13 Acta Neuropathologica (2022) 143:55–73 57 is driven by the mouse thymus cell antigen 1 (Thy1) pro- moter leading to neuronal expression of αSyn in the brain and gut [7, 8, 60]. ...
Genetic variants of the 伪-synuclein gene, SNCA, are thus strong candidates for genetic association with MSA. One follow-up to a genome-wide association of Parkinson's disease has identified association of a SNP in SNCA with MSA. Methodology/Findings: We evaluated 32 SNPs in the SNCA gene ...
Parkinson's disease (PD) is an age-related neurodegenerative disorder, and variants in the a-synuclein gene (SNCA) affect susceptibility to PD. This exploratory study examined whether SNCA variants may also promote successful aging as defined by survival without neurological disease. Methods: We ...
In our work, we used a new technology for multiplex profiling of gene expression using barcoding on the Nanostring platform to assess the activity of mitochondrial genes on iPSC-derived cultures of dopaminergic neurons obtained from patients with LRRK2- and SNCA-associated genetic forms PD and a...